Search

Your search keyword '"Ibañez, Salva"' showing total 3 results
Start Over Author "Ibañez, Salva"
3 results on '"Ibañez, Salva"'

1. Front Cover

Author

Pascual‐Alonso, Ainhoa, primary, Blasco, Laura, additional, Vidal, Silvia, additional, Gean, Esther, additional, Rubio, Patricia, additional, O'Callaghan, Mar, additional, Martínez‐Monseny, Antonio F., additional, Castells, Alba Aina, additional, Xiol, Clara, additional, Català, Vicenç, additional, Brandi, Nuria, additional, Pacheco, Paola, additional, Ros, Carlota, additional, Campo, Miguel, additional, Guillén, Encarna, additional, Ibañez, Salva, additional, Sánchez, María J., additional, Lapunzina, Pablo, additional, Nevado, Julián, additional, Santos, Fernando, additional, Lloveras, Elisabet, additional, Ortigoza‐Escobar, Juan D., additional, Tejada, María I., additional, Maortua, Hiart, additional, Martínez, Francisco, additional, Orellana, Carmen, additional, Roselló, Mónica, additional, Mesas, María A., additional, Obón, María, additional, Plaja, Alberto, additional, Fernández‐Ramos, Joaquín A., additional, Tizzano, Eduardo, additional, Marín, Rosario, additional, Peña‐Segura, José L., additional, Alcántara, Soledad, additional, and Armstrong, Judith, additional

Published
2020
Full Text
View/download PDF

2. Molecular characterization of Spanish patients withMECP2duplication syndrome

Author

Pascual‐Alonso, Ainhoa, primary, Blasco, Laura, additional, Vidal, Silvia, additional, Gean, Esther, additional, Rubio, Patricia, additional, O'Callaghan, Mar, additional, Martínez‐Monseny, Antonio F., additional, Castells, Alba Aina, additional, Xiol, Clara, additional, Català, Vicenç, additional, Brandi, Nuria, additional, Pacheco, Paola, additional, Ros, Carlota, additional, Campo, Miguel, additional, Guillén, Encarna, additional, Ibañez, Salva, additional, Sánchez, María J., additional, Lapunzina, Pablo, additional, Nevado, Julián, additional, Santos, Fernando, additional, Lloveras, Elisabet, additional, Ortigoza‐Escobar, Juan D., additional, Tejada, María I., additional, Maortua, Hiart, additional, Martínez, Francisco, additional, Orellana, Carmen, additional, Roselló, Mónica, additional, Mesas, María A., additional, Obón, María, additional, Plaja, Alberto, additional, Fernández‐Ramos, Joaquín A., additional, Tizzano, Eduardo, additional, Marín, Rosario, additional, Peña‐Segura, José L., additional, Alcántara, Soledad, additional, and Armstrong, Judith, additional

Published
2020
Full Text
View/download PDF

3. Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Author

Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, and Santos, Fernando

Subjects
COMPARATIVE genomic hybridization, GENETIC counseling, INTELLECTUAL disabilities, SYNDROMES
Abstract

MECP2 duplication syndrome (MDS) is an X‐linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho‐motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridization and multiplex ligation‐dependent probe amplification (MLPA). Using, a custom in‐house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype‐phenotype correlations, and thus more personalized genetic counselling. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results